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Genetic and Rare Diseases Information Center (GARD)

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Congenital diaphragmatic hernia

Other Names for this Disease
  • Agenesis of hemidiaphragm
  • CDH
  • Congenital diaphragmatic defect
  • Unilateral agenesis of diaphragm
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What causes congenital diaphragmatic hernia?

Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings.[1] Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect. These individuals are classified as having syndromic CDH either resulting from a recognized chromosome abnormality or as a single gene disorder. In the remaining 80%-85% of individuals with CDH, the cause is not known. Potential causes in these individuals may include:
  • a currently undetectable chromosomal microdeletion (tiny loss of genetic material) or microduplication (an extra copy of genetic material)
  • a mutation in a major gene important for diaphragm development
  • combined effects of multiple minor genetic mutations or variants (polygenic inheritance)
  • effects of gene-environment interactions (multifactorial inheritance)
  • effects of non-genetic factors (e.g. epigenetic or teratogenic)[1]

GeneReviews has more detailed information about causes of CDH; this information can be viewed by clicking here.

Last updated: 11/27/2012

  1. Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman. Congenital Diaphragmatic Hernia Overview. GeneReviews. March 16, 2010; Accessed 11/27/2012.